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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cone rod dystrophy
Symptom C0035304|retinal degeneration
Sentences 4
PubMedID- 22900092 This work also suggests that safranal could be potentially useful to retard retinal degeneration in patients with retinitis pigmentosa.
PubMedID- 23486466 Recently, a d1080n mutation in irbp was found in patients with retinitis pigmentosa, a frequent cause of retinal degeneration.
PubMedID- 21340525 As such the pro347leu rhodopsin transgenic pigs have exhibited phenotypic stability through generations of outcrossing and can be used confidently in future studies of the type of retinal degeneration seen with retinitis pigmentosa.
PubMedID- 22276148 The most common allele in north america for autosomal dominant retinitis pigmentosa, a major cause of retinal degeneration and vision loss worldwide .

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